Mutagenetix > Incidental Mutation

Incidental Mutation 'R8811:Lat2'

686563

Institutional Source

Beutler Lab

Gene Symbol

Lat2

Ensembl Gene

ENSMUSG00000040751

Gene Name

linker for activation of T cells family, member 2

Synonyms

Wbscr5, Wbscr15

MMRRC Submission

068646-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.050) question?

Stock #

R8811 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

134628876-134643879 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

C to T at 134635553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000144611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023867] [ENSMUST00000036362] [ENSMUST00000077636] [ENSMUST00000200737] [ENSMUST00000200998] [ENSMUST00000202085]

AlphaFold

Q9JHL0

Predicted Effect

probably benign
Transcript: ENSMUST00000023867

SMART Domains

Protein: ENSMUSP00000023867
Gene: ENSMUSG00000023104

Domain	Start	End	E-Value	Type
AAA	63	189	9.42e-13	SMART
Pfam:Rep_fac_C	253	338	3.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036362

SMART Domains

Protein: ENSMUSP00000046900
Gene: ENSMUSG00000040751

Domain	Start	End	E-Value	Type
low complexity region	4	25	N/A	INTRINSIC
Pfam:LAT2	29	197	6.6e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000077636

SMART Domains

Protein: ENSMUSP00000076824
Gene: ENSMUSG00000040751

Domain	Start	End	E-Value	Type
signal peptide	1	29	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000200737

SMART Domains

Protein: ENSMUSP00000143998
Gene: ENSMUSG00000040751

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:LAT2	29	114	9.5e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000200998

SMART Domains

Protein: ENSMUSP00000143977
Gene: ENSMUSG00000040751

Domain	Start	End	E-Value	Type
low complexity region	4	25	N/A	INTRINSIC
Pfam:LAT2	29	197	6.6e-82	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000201632

Predicted Effect

probably benign
Transcript: ENSMUST00000202085

SMART Domains

Protein: ENSMUSP00000144611
Gene: ENSMUSG00000040751

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
Pfam:LAT2	29	116	7.5e-29	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (54/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is one of the contiguous genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative splicing generates 3 transcript variants, all encoding the same protein. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a null allele have abnormal mast cell physiology and increased anti-nuclear antigen antibody level. Mice homozygous for another null allele show abnormal mast cell physiology, hyperactivated T cells, higher cytokine production, spleenhyperplasia and increased autoantibody level. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	T	G	17: 24,536,212 (GRCm39)	K485T	probably benign	Het
Abcc12	G	T	8: 87,280,023 (GRCm39)	L337M	probably damaging	Het
Adcy4	T	C	14: 56,010,221 (GRCm39)	D687G	probably benign	Het
Aldoc	T	A	11: 78,215,610 (GRCm39)	I98N	probably damaging	Het
Aoah	T	A	13: 21,184,121 (GRCm39)	V395D	probably damaging	Het
Arap1	C	T	7: 101,036,403 (GRCm39)	R397W	probably damaging	Het
Arl16	A	T	11: 120,357,526 (GRCm39)	M63K	probably damaging	Het
Atf7	T	C	15: 102,502,144 (GRCm39)	D4G	probably damaging	Het
Atp6v0d2	A	T	4: 19,922,397 (GRCm39)	V34D	probably benign	Het
Calhm4	T	A	10: 33,917,661 (GRCm39)	K263N	probably benign	Het
Camk1g	C	G	1: 193,044,408 (GRCm39)	G2A	probably damaging	Het
Cenpe	A	G	3: 134,929,001 (GRCm39)	T302A	probably damaging	Het
Cps1	T	C	1: 67,253,246 (GRCm39)	V1246A	probably benign	Het
Csmd3	T	C	15: 47,560,139 (GRCm39)	D1397G		Het
Ddx39b	T	A	17: 35,463,435 (GRCm39)	S115T	probably benign	Het
Dnaja3	C	A	16: 4,514,383 (GRCm39)	T305K	probably benign	Het
Dusp7	C	G	9: 106,248,241 (GRCm39)	H290D	probably benign	Het
Emilin2	T	A	17: 71,582,282 (GRCm39)	D148V	possibly damaging	Het
Erbin	C	T	13: 104,022,824 (GRCm39)	R5Q	probably damaging	Het
Fam3b	T	C	16: 97,313,715 (GRCm39)		probably benign	Het
Foxn3	T	C	12: 99,162,951 (GRCm39)	S317G	probably benign	Het
Gipc1	T	A	8: 84,388,919 (GRCm39)	M177K	possibly damaging	Het
Grpel2	A	C	18: 61,851,823 (GRCm39)		probably benign	Het
Htr1a	G	C	13: 105,581,101 (GRCm39)	A114P	probably damaging	Het
Iqch	A	T	9: 63,452,195 (GRCm39)	M210K	possibly damaging	Het
Kdelr3	T	C	15: 79,410,052 (GRCm39)	I179T	possibly damaging	Het
Mcrip1	A	G	11: 120,435,605 (GRCm39)	V10A	probably damaging	Het
Mib1	C	T	18: 10,755,643 (GRCm39)	L350F	probably benign	Het
Nhlrc2	T	A	19: 56,583,344 (GRCm39)	V605E	probably benign	Het
Nup133	AAGAGA	AAGA	8: 124,638,627 (GRCm39)	900	probably null	Het
Nutm2	A	T	13: 50,623,989 (GRCm39)	I229F	probably benign	Het
Or6f1	G	A	7: 85,970,989 (GRCm39)	T57M	probably damaging	Het
Phkb	T	C	8: 86,745,156 (GRCm39)	V611A	possibly damaging	Het
Polg2	A	T	11: 106,670,208 (GRCm39)	Y21N	probably benign	Het
Prss28	T	A	17: 25,528,627 (GRCm39)	I23N	probably benign	Het
Ptprz1	G	A	6: 23,030,661 (GRCm39)	V1856I	probably benign	Het
Slc22a22	A	T	15: 57,108,237 (GRCm39)	I526N	probably damaging	Het
Slc24a4	T	C	12: 102,180,133 (GRCm39)	F68S	probably damaging	Het
Slc37a3	A	G	6: 39,322,274 (GRCm39)	S377P	probably damaging	Het
Smoc2	T	C	17: 14,545,896 (GRCm39)	S62P	probably damaging	Het
Sox4	A	G	13: 29,136,911 (GRCm39)	S32P	probably damaging	Het
Stxbp2	A	T	8: 3,689,541 (GRCm39)	Q426L		Het
Synrg	T	G	11: 83,910,410 (GRCm39)	S937A	probably benign	Het
Tbr1	C	A	2: 61,642,196 (GRCm39)	T487K	possibly damaging	Het
Tll2	T	C	19: 41,195,012 (GRCm39)	T25A	probably benign	Het
Trim31	T	C	17: 37,210,875 (GRCm39)	F169S	probably benign	Het
Tro	G	A	X: 149,438,555 (GRCm39)	S34L	unknown	Het
Tspear	T	C	10: 77,665,463 (GRCm39)	F83S	probably benign	Het
Ubr5	C	A	15: 38,041,123 (GRCm39)	A254S		Het
Ubtfl1	A	G	9: 18,321,459 (GRCm39)	E329G	probably benign	Het
Vmn2r45	A	G	7: 8,474,881 (GRCm39)	W716R	probably damaging	Het
Vmn2r67	T	C	7: 84,799,895 (GRCm39)	M448V	probably damaging	Het
Wwc2	T	G	8: 48,336,579 (GRCm39)	I228L	possibly damaging	Het
Zbtb20	T	C	16: 43,430,857 (GRCm39)	V383A	probably benign	Het

Other mutations in Lat2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00482:Lat2	APN	5	134,635,630 (GRCm39)	critical splice donor site	probably null
IGL01897:Lat2	APN	5	134,635,481 (GRCm39)	splice site	probably benign
IGL02869:Lat2	APN	5	134,637,027 (GRCm39)	missense	probably damaging	1.00
IGL03018:Lat2	APN	5	134,631,445 (GRCm39)	missense	probably damaging	0.97
R0735:Lat2	UTSW	5	134,635,637 (GRCm39)	missense	probably damaging	1.00
R1739:Lat2	UTSW	5	134,635,223 (GRCm39)	missense	possibly damaging	0.93
R2257:Lat2	UTSW	5	134,631,481 (GRCm39)	missense	probably damaging	1.00
R2866:Lat2	UTSW	5	134,634,798 (GRCm39)	missense	probably damaging	0.99
R4675:Lat2	UTSW	5	134,634,911 (GRCm39)	missense	probably damaging	0.99
R5008:Lat2	UTSW	5	134,631,991 (GRCm39)	missense	probably benign	0.02
R6014:Lat2	UTSW	5	134,632,308 (GRCm39)	missense	probably damaging	1.00
R6422:Lat2	UTSW	5	134,632,015 (GRCm39)	missense	probably benign	0.00
R7330:Lat2	UTSW	5	134,635,641 (GRCm39)	missense	probably damaging	0.99
R7512:Lat2	UTSW	5	134,634,798 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GACATAGTGAGGTCTAGCCCTG -3'
(R):5'- CATGGCTAAAGCTTGCTCACTG -3'

Sequencing Primer
(F):5'- CCCTGGCTCCAGTAGGTG -3'
(R):5'- GCACTGGCTTGCATAGAACTTAC -3'

Posted On

2021-11-03